超声在18-三体综合征产前诊断中的意义  

Significance of prenatal ultrasonography in diagnosis of trisomy 18 syndrome

作　　者：顾莹[1] 赫飞[1] 张运平[1] 顾依群[1] 王金玲[1] 李智[1] 

机构地区：[1]北京海淀区妇幼保健院产前筛查中心,100080

出　　处：《中国妇产科临床杂志》2006年第5期340-343,共4页Chinese Journal of Clinical Obstetrics and Gynecology

摘　　要：目的探讨超声在18-三体综合征产前诊断中的意义。方法对我院1年来经羊水细胞或脐血细胞染色体核型分析确诊为18-三体综合征的5例胎儿超声影像资料进行回顾性分析,评估超声在产前对18-三体综合征胎儿检出的临床价值。结果5例18-三体综合征患儿至少存在1种以上的超声异常声像。结论妊娠期超声可检测到18-三体胎儿在形态结构上发生的异常,结合羊水或脐血染色体核型诊断,对于提高18-三体综合征胎儿的产前诊断率,降低严重染色体病缺陷患儿的出生率具有重要意义。Objective To evaluate significance of prenatal ultrasonography in diagnosis of trisomy 18. Methods The characters of prenatal ultrasonography of five fetuses with trisomy 18 were reviewed, which were finally diagnosed by karyotype analysis at our hospital in the past year. Results At least one abnormal sonographic finding were observed with each of the five fetuses. Conclusions Prenatal ultrasound is effective at detection of fetuses with trisomy 18 and find out those who need further genetic testing. As a non - invasive method, ultrasonography is valuable in increasing the prenatal diagnosis rate of fetus with trisomy 18 and decreasing the delivery rate of fetus with severe chromosomal diseases.

关 键 词：18-三体综合征 超声 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]